K. Goto

发表

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

Y. Goto, I. Nishino, M. Okubo, 2016, Journal of Human Genetics.

Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B

I. Nonaka, Y. Hayashi, I. Nishino, 2009, Neuromuscular Disorders.

Positive association between STAT4 polymorphisms and polymyositis/dermatomyositis in a Japanese population

H. Yamanaka, Y. Hayashi, I. Nishino, 2012, Annals of the rheumatic diseases.

Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.

I. Nonaka, Y. Hayashi, I. Nishino, 2007, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.

I. Nonaka, Y. Hayashi, I. Nishino, 2009, The Journal of clinical investigation.

Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): Immunocytochemical and genetic analyses

I. Nonaka, S. Orimo, K. Goto, 1995, Muscle & nerve. Supplement.

Characterization of a tandemly repeated 3.3‐kb Kpnl unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35

K. Goto, K. Arahata, Je Hyeon Lee, 1995, Muscle & nerve. Supplement.

Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations

Y. Hayashi, I. Nishino, K. Nagao, 2016, Neuromuscular Disorders.

Facioscapulohumeral muscular dystrophy 2 (FSHD2) is a genetic muscular disorder characterized by DNA hypomethylation on the 4q-subtelomeric macrosatellite repeat array, D4Z4. FSHD2 is caused by heterozygous mutations in the gene encoding structural maintenance of chromosomes flexible hinge

Y. Hayashi, I. Nishino, K. Nagao, 2016 .

Association between a C8orf13–BLK Polymorphism and Polymyositis/Dermatomyositis in the Japanese Population: An Additive Effect with STAT4 on Disease Susceptibility

H. Yamanaka, Y. Hayashi, I. Nishino, 2014, PloS one.

Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A

Y. Hayashi, I. Nishino, K. Goto, 2004, Journal of Medical Genetics.

DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: clinical correlations

K. Goto, T. Furukawa, K. Arahata, 1995, Neuromuscular Disorders.

Immunohistochemical analysis of perforin and granzyme A in inflammatory myopathies

I. Nonaka, Koichiro Nakamura, S. Orimo, 1994, Neuromuscular Disorders.

Congenital fiber type disproportion myopathy caused by LMNA mutations

I. Nonaka, Y. Hayashi, I. Nishino, 2014, Journal of the Neurological Sciences.

Characterization of the Asian myopathy patients with VCP mutations

I. Nonaka, Y. Hayashi, I. Nishino, 2012, European journal of neurology.

Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation

N. Yonemoto, Y. Hayashi, I. Nishino, 2018, Journal of neuromuscular diseases.

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

Y. Hayashi, I. Nishino, M. Okubo, 2017, Orphanet Journal of Rare Diseases.

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)

Y. Hayashi, I. Nishino, S. Takeda, 2013, Orphanet Journal of Rare Diseases.

Dysferlin mutation analysis in a group of Italian patients with limb‐girdle muscular dystrophy and Miyoshi myopathy

Y. Hayashi, I. Nishino, C. Angelini, 2004, European journal of neurology.

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients

I. Nonaka, Y. Hayashi, I. Nishino, 2003, Journal of the Neurological Sciences.

Laminin in Animal Models for Muscular Dystrophy Defect of Laminin M in Skeletal and Cardiac Muscles and Peripheral Nerve of the Homozygous Dystrophic dy/dy Mice.

T. Tsukahara, I. Nonaka, Y. Hayashi, 1993 .

Novel DYSF mutations in Thai patients with distal myopathy

Y. Hayashi, I. Nishino, T. Liewluck, 2009, Clinical Neurology and Neurosurgery.

Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene

M. Nakagawa, H. Takashima, K. Goto, 2001, Journal of the Neurological Sciences.

Epilepsy and mental retardation in a subset of early onset 4q35‐facioscapulohumeral muscular dystrophy

K. Goto, K. Arahata, Kiichi Arahata, 1998, Neurology.

Cloning and mapping of a very short (10‐kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD)

I. Nonaka, K. Goto, K. Arahata, 1995, Muscle & nerve. Supplement.

Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35.

K. Goto, K. Arahata, J. H. Lee, 1995, Muscle & nerve. Supplement.

Cloning and mapping of a very short (10-kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD).

I. Nonaka, K. Goto, K. Arahata, 1995, Muscle & nerve. Supplement.

Limb-girdle muscular dystrophy due to emerin gene mutations.

K. Hirata, I. Nonaka, Y. Hayashi, 2007, Archives of neurology.

Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy‐Like Phenotype

F. Puppo, Y. Hayashi, I. Nishino, 2015, Human mutation.

Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane

Y. Tsuchiya, K. Goto, K. Arahata, 1997, Neurogenetics.

Malignant hyperthermia in a patient with Becker muscular dystrophy: Dystrophin analysis and caffeine contracture study

H. Mizusawa, Y. Sugishita, S. Shoji, 1995, Neuromuscular Disorders.

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.

I. Nonaka, Y. Hayashi, I. Nishino, 2011, American journal of human genetics.

Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy

T. Tsukahara, E. Uyama, K. Goto, 2000, Muscle & nerve.

Abnormal localization of laminin subunits in muscular dystrophies

E. Engvall, I. Nonaka, Y. Hayashi, 1993, Journal of the Neurological Sciences.

A severe muscular dystrophy patient with an internally deleted very short (110 kD) Dystrophin: Presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin

T. Tsukahara, I. Nonaka, A. Beggs, 1995, Neuromuscular Disorders.

Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment

Y. Hayashi, I. Nishino, Chao-Ching Huang, 2013, Neuromuscular Disorders.

Tongue atrophy in facioscapulohumeral muscular dystrophy

Y. Hayashi, T. Komori, K. Goto, 2001, Neurology.

Two Cases of Chromosome 4q35-Linked Early Onset Facioscapulohumeral Muscular Dystrophy with Mental Retardation and Epilepsy

K Goto, K. Watanabe, K. Goto, 1998, Neuropediatrics.

Congenital myotonic dystrophy can show congenital fiber type disproportion pathology

I. Nonaka, Y. Hayashi, I. Nishino, 2010, Acta Neuropathologica.

Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy

Y. Hayashi, I. Nishino, K. Goto, 2006, Neuromuscular Disorders.

Reply to Lemmers et al.

Y. Hayashi, I. Nishino, K. Goto, 2006, Neuromuscular Disorders.

Chromosome 4q;10q translocations; Comparison with different ethnic populations and FSHD patients

Y. Hayashi, K. Goto, K. Arahata, 2002, BMC neurology.

Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1)

I. Nonaka, Y. Hayashi, I. Nishino, 2008, Neuromuscular Disorders.

Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy

I. Nonaka, Y. Hayashi, M. Nakagawa, 1999 .

Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy.

Y. Hayashi, W. Liang, Y. Jong, 2007, Journal of the Formosan Medical Association = Taiwan yi zhi.

FSHD-like patients without 4q35 deletion

Y. Hayashi, I. Nishino, K. Goto, 2004, Journal of the Neurological Sciences.

Identification of variants in the 4 q 35 gene FAT 1 in patients with a Facioscapulohumeral dystrophy ( FSHD )-like phenotype

F. Puppo, Y. Hayashi, I. Nishino, 2015 .

[Clinical and genetical features of Japanese early-onset facioscapulohumeral muscular dystrophy].

Y. Hayashi, K. Goto, K. Arahata, 2002, No to hattatsu = Brain and development.

C.P.4.06 A novel myotilin mutation in exon 9: The first LGMD1A identified in Japan

I. Nonaka, Y. Hayashi, I. Nishino, 2007, Neuromuscular Disorders.

[Recent advances in facioscapulohumeral muscular dystrophy].

Y. Hayashi, K. Goto, Ichizo Nishio, 2012, Rinshō shinkeigaku Clinical neurology.

[The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene].

Y. Hayashi, T. Ogawa, K. Goto, 2002, Rinsho shinkeigaku = Clinical neurology.

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (FSHD): IMMUNOCYTOCHEMICAL AND GENETIC ANALYSES

I. Nonaka, S. Orimo, K. Goto, 2004 .